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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Noonan syndrome 6
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Accession:DOID:0060584 term browser browse the term
Definition:A Noonan syndrome that has_material_basis in heterozygous mutation in the NRAS gene on chromosome 1p13. (DO)
Synonyms:exact_synonym: NS6
 primary_id: MESH:C548084
 alt_id: OMIM:613224;   RDO:0004665
For additional species annotation, visit the Alliance of Genome Resources.


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Noonan syndrome 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Noonan syndrome 6 OMIM
ClinVar
PMID:2407301, PMID:2674680, PMID:2989702, PMID:8120410, PMID:16291983, PMID:17332249, PMID:17517660, PMID:17671181, PMID:18375819, PMID:18390968, PMID:19657110, PMID:19775298, PMID:19966803, PMID:20130576, PMID:20179705, PMID:21079152, PMID:21263000, PMID:22855653, PMID:23325582, PMID:23414587, PMID:23431193, PMID:24033266, PMID:24806883, PMID:25157968, PMID:25741868, PMID:26467218, PMID:26619011, PMID:26661077, PMID:27069254, PMID:27121720, PMID:28492532, PMID:28594414 NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      RASopathy 77
        Noonan syndrome 54
          Noonan syndrome 6 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            autosomal genetic disease 4732
              autosomal dominant disease 3036
                Noonan syndrome 6 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.